Variant report

Variant	esv3383626
Chromosome Location	chr12:57160685-57162633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57156599..57160175-chr12:57160650..57163497,3	K562	blood:
2	chr12:57161853..57164253-chr12:57165947..57168097,2	MCF-7	breast:
3	chr12:57151540..57154477-chr12:57162511..57165120,2	K562	blood:
4	chr12:57159846..57162634-chr12:57228722..57230740,2	MCF-7	breast:
5	chr12:57115492..57120311-chr12:57159209..57164000,5	MCF-7	breast:
6	chr12:57157079..57158624-chr12:57160965..57163769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196531	chromatin interactions
ENSG00000025423	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548624519	chr12:57160710-57160711	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143738591	chr12:57160742-57160743	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs185761560	chr12:57160758-57160759	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576331774	chr12:57160792-57160793	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs111741566	chr12:57160818-57160819	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs560870524	chr12:57160876-57160877	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550559191	chr12:57160897-57160898	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs146781636	chr12:57160923-57160924	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs148936071	chr12:57160925-57160926	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562904133	chr12:57160995-57160996	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs567594445	chr12:57161013-57161014	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs533342020	chr12:57161022-57161023	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs551458004	chr12:57161026-57161027	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs143666872	chr12:57161035-57161036	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189000599	chr12:57161078-57161079	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs374037893	chr12:57161112-57161113	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs567512500	chr12:57161146-57161147	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs60616618	chr12:57161151-57161152	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538183667	chr12:57161157-57161158	Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs111324591	chr12:57161286-57161287	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs369568001	chr12:57161316-57161317	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552329627	chr12:57161332-57161333	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377757829	chr12:57161410-57161411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs141833322	chr12:57161411-57161412	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs397798828	chr12:57161415-57161416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs55791801	chr12:57161416-57161417	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547535428	chr12:57161423-57161424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529850707	chr12:57161427-57161428	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs61350813	chr12:57161430-57161431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs556420678	chr12:57161506-57161507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs12828479	chr12:57161534-57161535	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111513422	chr12:57161535-57161536	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs199619744	chr12:57161566-57161567	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs538641326	chr12:57161575-57161576	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs113450223	chr12:57161593-57161594	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs377086431	chr12:57161610-57161611	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369737760	chr12:57161631-57161632	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs548037437	chr12:57161648-57161649	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs536860203	chr12:57161673-57161674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs565457010	chr12:57161684-57161685	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs553446945	chr12:57161688-57161689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368239668	chr12:57161693-57161694	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201324794	chr12:57161709-57161710	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs75916147	chr12:57161714-57161715	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs372057407	chr12:57161722-57161723	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs558910714	chr12:57161739-57161740	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs543766933	chr12:57161747-57161748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs565199724	chr12:57161755-57161756	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373206273	chr12:57161765-57161766	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs376671508	chr12:57161799-57161800	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57152200-57161800	Weak transcription	Pancreas	Pancrea
2	chr12:57155800-57166000	Weak transcription	Right Atrium	heart
3	chr12:57156400-57179400	Weak transcription	Spleen	Spleen
4	chr12:57157600-57163600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:57157800-57171000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:57158400-57161800	Weak transcription	HepG2	liver
7	chr12:57158600-57179200	Weak transcription	HSMMtube	muscle
8	chr12:57159800-57161000	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:57159800-57164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:57160000-57161000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:57160000-57161000	Enhancers	Primary B cells from cord blood	blood
12	chr12:57160000-57161000	Flanking Active TSS	GM12878-XiMat	blood
13	chr12:57160000-57162600	Weak transcription	Esophagus	oesophagus
14	chr12:57160200-57160800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:57160200-57161000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:57160200-57161200	Flanking Active TSS	Liver	Liver
17	chr12:57160400-57160800	Enhancers	Lung	lung
18	chr12:57160400-57163600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:57160400-57168400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:57160600-57160800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:57160600-57161000	Active TSS	Rectal Smooth Muscle	rectum
22	chr12:57160600-57163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:57160600-57163600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:57160600-57163600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:57160800-57161000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr12:57160800-57164000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:57160800-57179400	Weak transcription	Lung	lung
28	chr12:57161000-57165200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:57161000-57165400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:57161200-57162000	Enhancers	Liver	Liver
31	chr12:57161800-57163200	Enhancers	Pancreas	Pancrea
32	chr12:57161800-57163800	Enhancers	HepG2	liver
33	chr12:57162000-57162400	Flanking Active TSS	Liver	Liver
34	chr12:57162400-57162600	Enhancers	Liver	Liver
35	chr12:57162600-57163200	Flanking Active TSS	Liver	Liver

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